Analysis workflow to assess de novo genetic variants from human whole-exome sequencing

Analysis workflow to assess de novo genetic variants from human whole-exome sequencing

Summary: Here, we present a protocol to analyze de novo genetic variants derived from the whole-exome sequencing (WES) of proband-parent trios. We provide stepwise instructions for using existing pipelines to call de novo mutations (DNMs) and determine whether the observed number of such mutations i...

Full description

Bibliographic Details
Main Authors: Nicholas S. Diab, Spencer King, Weilai Dong, Garrett Allington, Amar Sheth, Samuel T. Peters, Kristopher T. Kahle, Sheng Chih Jin
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:STAR Protocols
Subjects:
Bioinformatics
Sequence analysis
Genetics
Genomics
Sequencing
High-throughput screening
Online Access:http://www.sciencedirect.com/science/article/pii/S2666166721000903

Internet

http://www.sciencedirect.com/science/article/pii/S2666166721000903

Similar Items